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Prenatal ultrasound diagnosis of Leroy I cell disease
Author(s) -
Lees C.,
Homfray T.,
Nicolaides K. H.
Publication year - 2001
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2001.00446.x
Subject(s) - medicine , polyhydramnios , prenatal diagnosis , ultrasound , prenatal ultrasound , obstetrics , gestation , disease , obstetrics and gynaecology , pregnancy , fetus , pediatrics , gynecology , radiology , pathology , genetics , biology
Leroy I cell disease is a rare autosomal recessive disorder which progressively leads to death within the first decade of life. Invasive prenatal diagnosis is possible but is only undertaken in families who have previously had an affected child. We describe the antenatal ultrasound diagnosis of the disease in a case referred at 30 weeks' gestation for suspected polyhydramnios. Copyright © 2001 International Society of Ultrasound in Obstetrics and Gynecology